Canonical Allele Identifier: CA19093793
Gene: HSPG2 HGNC NCBI

Linked Data

dbSNP Id: rs968235757
gnomAD v3: 1-21899291-C-A
gnomAD v4: 1-21899291-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.21899291C>A , CM000663.2:g.21899291C>A GRCh38
NC_000001.10:g.22225784C>A , CM000663.1:g.22225784C>A GRCh37
NC_000001.9:g.22098371C>A NCBI36
NG_016740.1:g.42967G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000374695.8:c.64-2981G>T MANE Select ENSP00000363827.3:n.64-2981G>T
ENST00000374695.7:c.64-2981G>T ENSP00000363827.3:n.64-2981G>T
NM_001291860.1:c.64-2981G>T NP_001278789.1:n.64-2981G>T
NM_005529.6:c.64-2981G>T NP_005520.4:n.64-2981G>T
XM_006710594.2:c.64-2981G>T XP_006710657.1:n.64-2981G>T
XM_006710595.2:c.64-2981G>T XP_006710658.1:n.64-2981G>T
XM_006710596.2:c.64-2981G>T XP_006710659.1:n.64-2981G>T
XM_006710597.2:c.64-2981G>T XP_006710660.1:n.64-2981G>T
XM_011541317.1:c.64-2981G>T XP_011539619.1:n.64-2981G>T
XM_011541318.1:c.64-2981G>T XP_011539620.1:n.64-2981G>T
XM_011541319.1:c.64-2981G>T XP_011539621.1:n.64-2981G>T
XM_011541320.1:c.64-2981G>T XP_011539622.1:n.64-2981G>T
XM_011541321.1:c.64-2981G>T XP_011539623.1:n.64-2981G>T
XM_011541322.1:c.64-2981G>T XP_011539624.1:n.64-2981G>T
XM_011541318.2:c.64-2981G>T XP_011539620.1:n.64-2981G>T
NM_005529.7:c.64-2981G>T MANE Select NP_005520.4:n.64-2981G>T
NM_001291860.2:c.64-2981G>T NP_001278789.1:n.64-2981G>T